Publications by authors named "Adnan Yuksel"

39Publications

New mutations in KCNT2 gene causing early infantile epileptic encephalopathy type 57: Case study and literature review.

Acta Biochim Pol 2020 Sep;67(3):431-434

Department of Molecular Biology and Genetics, Genome Centre, Biruni University, Zeytinburnu, Istanbul, Turkey.

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http://dx.doi.org/10.18388/abp.2020_5364DOI Listing
September 2020

Revealing the function of a novel splice-site mutation of CHD7 in CHARGE syndrome.

Gene 2016 Feb 10;576(2 Pt 2):776-81. Epub 2015 Nov 10.

Department of Medical Genetics, Istanbul University Cerrahpasa Medical School, Istanbul, Turkey; Department of Medical Genetics, Biruni University Medical School, Istanbul, Turkey; Department of Pathology & Immunology, Baylor College of Medicine, Michael E. DeBakey VAMC, Houston, TX, United States. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2015.11.006DOI Listing
February 2016

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

Neuron 2015 Nov;88(3):499-513

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08966273150083
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http://dx.doi.org/10.1016/j.neuron.2015.09.048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4824012PMC
November 2015

Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis.

Hum Mol Genet 2015 Oct 10;24(19):5378-87. Epub 2015 Jul 10.

Department of Medical Genetics, Istanbul University, Cerrahpasa Medical School, Istanbul, Turkey, Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX 77030, USA and Department of Molecular Biology and Genetics, Biruni University, Topkapi, Istanbul, Turkey

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http://dx.doi.org/10.1093/hmg/ddv261DOI Listing
October 2015

Whole-exome sequencing revealed two novel mutations in Usher syndrome.

Gene 2015 Jun 30;563(2):215-8. Epub 2015 Mar 30.

Department of Medical Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey; Department of Pathology & Immunology, Baylor College of Medicine, Houston, TX 77030, USA; Biruni University, Istanbul, Turkey. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2015.03.060DOI Listing
June 2015

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.

Nat Genet 2015 Jan 24;47(1):73-7. Epub 2014 Nov 24.

1] Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia. [2] Department of Integrated Systems Biology, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA. [3] Department of Pediatrics, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA. [4] Illumina, Inc., San Diego, California, USA.

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http://www.nature.com/articles/ng.3153
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http://dx.doi.org/10.1038/ng.3153DOI Listing
January 2015

Poikiloderma with neutropenia: genotype-ethnic origin correlation, expanding phenotype and literature review.

Am J Med Genet A 2014 Oct 16;164A(10):2535-40. Epub 2014 Jul 16.

Department of Medical Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey.

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http://doi.wiley.com/10.1002/ajmg.a.36683
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http://dx.doi.org/10.1002/ajmg.a.36683DOI Listing
October 2014

Therapeutic plasma exchange for malignant refractory status epilepticus: a case report.

Pediatr Neurol 2014 Apr 4;50(4):407-10. Epub 2014 Jan 4.

Department of Pediatric Neurology, Faculty of Medicine, Bezmialem Vakıf University, Istanbul, Turkey.

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.01.001DOI Listing
April 2014

Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis.

Am J Med Genet A 2014 Apr 23;164A(4):1062-8. Epub 2014 Jan 23.

Department of Pediatrics, Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

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http://doi.wiley.com/10.1002/ajmg.a.36390
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http://dx.doi.org/10.1002/ajmg.a.36390DOI Listing
April 2014

Report of a patient with Temple-Baraitser syndrome.

Am J Med Genet A 2014 Mar 19;164A(3):848-51. Epub 2013 Dec 19.

Department of Medical Genetics, Bezmialem Vakif University Medicine, Istanbul, Fatih, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.36344DOI Listing
March 2014

The drug-transporter gene MDR1 C3435T and G2677T/A polymorphisms and the risk of multidrug-resistant epilepsy in Turkish children.

Mol Biol Rep 2014 Jan 10;41(1):331-6. Epub 2013 Nov 10.

Department of Medical Genetics, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey.

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http://dx.doi.org/10.1007/s11033-013-2866-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3877425PMC
January 2014

Melatonin attenuates phenytoin sodium-induced DNA damage.

Drug Chem Toxicol 2014 Apr 30;37(2):233-9. Epub 2013 Oct 30.

Department of Pediatrics .

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http://dx.doi.org/10.3109/01480545.2013.838777DOI Listing
April 2014

A novel EFNB1 mutation in a patient with craniofrontonasal syndrome and right hallux duplication.

Gene 2013 Sep 8;527(2):675-8. Epub 2013 Jul 8.

Istanbul University, Cerrahpasa Medical School, Department of Medical Genetics, Fatih, Istanbul, Turkey.

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http://dx.doi.org/10.1016/j.gene.2013.06.038DOI Listing
September 2013

Involvement of the corpus callosum splenium in a case with SSPE: magnetic resonance spectroscopy findings.

Arch Med Sci 2013 Apr 9;9(2):386-7. Epub 2013 Apr 9.

Department of Radiology, Bezmialem Vakif University School of Medicine, İstanbul, Turkey.

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http://dx.doi.org/10.5114/aoms.2013.34420DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3648828PMC
April 2013

MicroRNA profiling in lymphocytes and serum of tyrosinemia type-I patients.

Mol Biol Rep 2013 Jul 7;40(7):4619-23. Epub 2013 May 7.

Department of Medical Genetics, Cerrahpasa Medical School, Istanbul University, Fatih, Istanbul, Turkey.

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http://dx.doi.org/10.1007/s11033-013-2555-xDOI Listing
July 2013

A rare case of split hand/foot malformation with sensorineural hearing loss and Mondini dysplasia.

Clin Dysmorphol 2013 Jan;22(1):33-5

Department of Medical Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey.

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http://dx.doi.org/10.1097/MCD.0b013e32835b8e6eDOI Listing
January 2013

Identification of a novel mutation in ZAP70 and prenatal diagnosis in a Turkish family with severe combined immunodeficiency disorder.

Gene 2013 Jan 2;512(2):189-93. Epub 2012 Nov 2.

Baylor College of Medicine, Department of Molecular and Human Genetics, Houston, TX, USA.

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http://dx.doi.org/10.1016/j.gene.2012.10.062DOI Listing
January 2013

Deficiency of selenium and zinc as a causative factor for idiopathic intractable epilepsy.

Epilepsy Res 2013 Mar 25;104(1-2):35-9. Epub 2012 Oct 25.

Istanbul University, Cerrahpaşa Medical Faculty, Department of Medical Genetics, Istanbul, Turkey.

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http://dx.doi.org/10.1016/j.eplepsyres.2012.09.013DOI Listing
March 2013

Evidence that membrane-bound G protein-coupled melatonin receptors MT1 and MT2 are not involved in the neuroprotective effects of melatonin in focal cerebral ischemia.

J Pineal Res 2012 Mar 14;52(2):228-35. Epub 2011 Sep 14.

Department of Medical Biology, Faculty of Medicine, Bezmialem Vakif University, Istanbul, Turkey.

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http://dx.doi.org/10.1111/j.1600-079X.2011.00932.xDOI Listing
March 2012

Glutathione S-transferase M1, GSTT1 and GSTP1 genetic polymorphisms and the risk of age-related macular degeneration.

Ophthalmic Res 2011 5;46(1):31-7. Epub 2011 Jan 5.

Department of Medical Biology, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey.

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https://www.karger.com/Article/FullText/321940
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http://dx.doi.org/10.1159/000321940DOI Listing
October 2011

Marked improvement in Segawa syndrome after L-dopa and selegiline treatment.

Pediatr Neurol 2010 May;42(5):348-50

Department of Medical Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey.

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http://dx.doi.org/10.1016/j.pediatrneurol.2010.01.008DOI Listing
May 2010

Polymorphisms of the DNA repair genes XPD and XRCC1 and the risk of age-related macular degeneration.

Invest Ophthalmol Vis Sci 2010 Sep 7;51(9):4732-7. Epub 2010 Apr 7.

Department of Ophthalmology, Yeditepe University Medical Faculty, Istanbul, Turkey.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.0
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http://dx.doi.org/10.1167/iovs.09-4842DOI Listing
September 2010

Magnetic resonance imaging, magnetic resonance spectroscopy, and facial dysmorphism in a case of Lowe syndrome with novel OCRL1 gene mutation.

J Child Neurol 2009 Jan;24(1):93-6

Department of Medical Genetics, Istanbul University Cerrahpasa Medical School, Istanbul, Turkey.

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http://journals.sagepub.com/doi/10.1177/0883073808321047
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http://dx.doi.org/10.1177/0883073808321047DOI Listing
January 2009

Spontaneous intracranial hypotension syndrome in a patient with marfan syndrome and autosomal dominant polycystic kidney disease.

Headache 2008 Apr 11;48(4):632-6. Epub 2008 Jan 11.

Division of Neuroradiology, Department of Radiology, Cerrahpasa Medical Faculty, Istanbul University, and General Practice/Family Medicine, Haseki Education and Research Hospital, Istanbul, Turkey.

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http://doi.wiley.com/10.1111/j.1526-4610.2007.01033.x
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http://dx.doi.org/10.1111/j.1526-4610.2007.01033.xDOI Listing
April 2008

Warburg Micro syndrome in a Turkish boy.

Clin Dysmorphol 2007 Apr;16(2):89-93

Department of Medical Genetics, Istanbul University Cerrahpasa Medical Faculty, Istanbul, Turkey.

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https://insights.ovid.com/crossref?an=00019605-200704000-000
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http://dx.doi.org/10.1097/MCD.0b013e328054c404DOI Listing
April 2007

Facial dysmorphism in Leigh syndrome with SURF-1 mutation and COX deficiency.

Pediatr Neurol 2006 Jun;34(6):486-9

Department of Medical Genetic, Division of Pediatric Neurology, Cerrahpaşa Medical Faculty, Istanbul University, Turkey.

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http://dx.doi.org/10.1016/j.pediatrneurol.2005.10.020DOI Listing
June 2006

The effects of vigabatrin on rat liver antioxidant status.

Drug Metabol Drug Interact 2005 ;21(2):109-15

Medical and Biological Sciences, Cerrahpaşa Medical Faculty, Istanbul University, Cerrahpaşa, Istanbul, Turkey.

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http://dx.doi.org/10.1515/dmdi.2005.21.2.109DOI Listing
June 2006

Epilepsy in vacuolating megalencephalic leukoencephalopathy with subcortical cysts.

Seizure 2003 Sep;12(6):388-96

Division of Child Neurology, Department of Neurology, Cerrahpaşa Medical Faculty, Istanbul University, Istanbul, Turkey.

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http://dx.doi.org/10.1016/s1059-1311(02)00350-3DOI Listing
September 2003

Neuroblastoma in a dysmorphic girl with a partial duplication of 2p caused by an unbalanced translocation.

Clin Dysmorphol 2002 Jan;11(1):39-42

Genetic and Teratology Research Center (GETAM), Cerrahpaş Medical Faculty, Istanbul University, Turkey.

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http://dx.doi.org/10.1097/00019605-200201000-00008DOI Listing
January 2002